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Introduction. Testicular germ cell tumor (GCT) is a rare pathology that accounts for about 1% of all malignant neoplasms in men, while cryptorchidism is one of the main risk factors. We present a clinical case of a GCT of an undescended testicle in patient with bilateral cryptorchidism and male to female sexual characteristics.Objective. To present a rare clinical case of testicular GCT in a patient with disorder of sex development (DSD).Clinical case. A 32-year-old patient with a history of bilateral cryptorchidism with a large neoplasm of the right undescended testis was detected during examination at the Department of Andrology and Oncourology No. 6 of the Pavlov State Medical University. Based on MRI scans, a cavity formation interpreted as an enlarged left seminal vesicle was fixed to the lower pole of the right testicle. Bilateral removal of the left and right testicles (tumour-affected) was performed. The seminal duct was detected from the lower pole of the formation, passing into a blindly ending soft tissue cavity formation (in shape and structure resembling a uterus) — its removal was performed. Histological examination showed that the neoplasm was a typical seminoma of the right testicle, pT2. The soft tissue cavity was represented by a rudimentary uterus with fallopian tubes. Adjuvant chemotherapy was performed.Conclusion. We demonstrate a rare clinical case of a GCT of the undescended testis in a patient with bilateral cryptorchidism, DSD (46, XY), and Müllerian duct persistence syndrome. These nosologies require early diagnosis and treatment.

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A one-year-old European shorthair feral cat with signs of heat was presented at the Veterinary Teaching Hospital of Las Palmas de Gran Canaria University. After the physical exam, histology, hormonal analysis, ultrasound and computed tomography (CT) studies were performed. Examination of the external genitalia revealed the absence of one of the testes in the scrotal sac and the presence of a structure whose appearance could suggest an enlarged penis-like clitoris with small spines. The ultrasound study showed compatible images with the left ovary and intra-abdominal testis and tubular structures, which closely resembled the uterine horns. Similar structures were confirmed in the CT study. Exploratory celiotomy revealed the presence of the uterus and undescended testis attached to the uterine horn. Histological examination revealed immature testicular tissue in both gonads and the presence of Persistent Müllerian Duct (PMD). Though a karyotype was not performed, it was presumed to be the standard 38 XY found in pseudohermaphrodites. To date, this type of disorder of sexual development (DSD) has been scarcely reported in cats. Further studies are on the way to knowing the genetic mechanism of this disease.

Canarium (Canarium) incisum and Canarium (Canarium) esculentum are small members of the molluscan Strombidae family. Little is known of their population structure. Therefore, we explored this using samples from a population of each. The first sample from Corong Corong Beach, El Nido, Philippines, consisted of 81 adult C. incisum, of which 33 were female and 48 were male. The second sample from Olango Island, Philippines consisted of 73 adult C. esculentum, of which 40 were female and 33 were male. Bias in sex ratio between species was not significant. However, there was bias in sex ratio within species, where males from both species were smaller in axial length than females. We found no evidence of pseudohermaphroditism. The black colouration of the aperture is a phenotype shared by many stromboidians, and 7.4% of C. incisum population exhibited this trait, while the C. esculentum population contained 50.1% black apertures specimens. Preliminary DArTseq analysis indicates that organisms with the black aperture colouration are nested within the populations. Our study fills a knowledge gap on C. incisum and C. esculentum population structure, and gives greater insights to size dynamics of stromboidian taxa in general. [ABSTRACT FROM AUTHOR]

Steroid hormones synchronize a variety of functions throughout all stages of life. Importantly, steroid hormone-transforming enzymes are ultimately responsible for the regulation of these potent signaling molecules. Germline mutations that cause dysfunction in these enzymes cause a variety of endocrine disorders. Mutations in SRD5A2, HSD17B3, and HSD3B2 genes that lead to disordered sexual development, salt wasting, and other severe disorders provide a glimpse of the impacts of mutations in steroid hormone transforming enzymes. In a departure from these established examples, this review examines disease-associated germline coding mutations in steroid-transforming members of the human aldo-keto reductase (AKR) superfamily. We consider two main categories of missense mutations: those resulting from nonsynonymous single nucleotide polymorphisms (nsSNPs) and cases resulting from familial inherited base pair substitutions. We found mutations in human AKR1C genes that disrupt androgen metabolism, which can affect male sexual development and exacerbate prostate cancer and polycystic ovary syndrome (PCOS). Others may be disease causal in the AKR1D1 gene that is responsible for bile acid deficiency. However, given the extensive roles of AKRs in steroid metabolism, we predict that with expanding publicly available data and analysis tools, there is still much to be uncovered regarding germline AKR mutations in disease. [ABSTRACT FROM AUTHOR]

Female pseudohermaphroditism occurs when normal ovaries are present but the body is partially masculinized as individuals with congenital adrenal hyperplasia, also known as adrenogenital syndrome. This is an inherited disorder that accounts for about one-half of all cases of human intersexuality. We report a case of a 24-year-old male presenting with abdominal pain and increasing abdominal distension for one month. Computed tomography scan revealed large multiloculated heterogeneously enhancing solid –cystic lesion in the abdominopelvic cavity– malignant gonadal mass, gross ascites, and visualization of the poorly formed elongated uterus-like structure in the recto-uterine pouch and phallus-like structure with non-visualization of bilateral testes. Histopathology report suggested germ cell tumor and immunohistochemistry confirmed the diagnosis of dysgerminoma. Since dysgerminoma is sensitive to platinum-based chemotherapy patient was subjected to chemotherapy and the patient showed a good response. The patient underwent exploratory laparotomy with right salpingo-oophorectomy with omentectomy and appendectomy.

Abstract Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.

Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD) phenotypes ranging from normal female external genitalia in severe subtypes to micropenis or hypospadias in patients with less severe presentations. Although most patients with LHCGR defects are diagnosed at puberty, here we describe the prenatal diagnosis of 46, XY DSD due to two likely pathogenic variants in LHCGR, one of which has never been reported.

The investigation of sex bias and pseudohermaphroditism is a relatively unexplored area of research in the Neostromboidae. Here, we inform on these phenomena in a population of Gibberulus dekkersi Maxwell, Hernandez Duran, Rowell & Rymer, 2021 on Green Island, Great Barrier Reef. We collected 598 individuals, and noted the size of the cluster in which it occurred. Each individual was placed ventral side up and the body of the animal observed at the time of righting. Sex was determined by the presence or absence of a verge. During this sexing process, females were inspected for the presence of external male sexual organs to indicate the presence or absence of pseudohermaphroditism. We found that, overall, the population was not sexually biased towards one sex. However, we did find that individual clusters within the population showed significant sex bias, with different clusters favouring either males or females. Smaller clusters had a structural sex-ratio bias in favour of females. No evidence for pseudohermaphroditism was recorded, which indicates that the marine pollutant tributyltin (TBT) may not be present or at harmful levels in the surrounding environment. This study adds information from an unstudied Queensland taxon to the growing evidence on sex bias, clustering effects and pseudohermaphroditism within the Neostromboidae. [ABSTRACT FROM AUTHOR]

Persistent Müllerian duct syndrome (PMDS) is a rare kind of internal male pseudohermaphroditism. The patient, who has a male karyotype and phenotypic characteristics, exhibits Müllerian duct derivatives such as the uterus, cervix, fallopian tubes, and upper two-thirds of the vagina. This article provides a comprehensive analysis of the CT and MRI characteristics of a case of PMDS in a 35-year-old male patient who sought medical attention at our clinic due to pain in the left inguinal region and the presence of undescended testes on both sides. The imaging results showed a pelvic mass with a bicornuate appearance, situated adjacent to the bladder on the left side. The diagnosis of compensated hypergonadotropic hypogonadism with a normal male karyotype is confirmed through biological and genetic studies. The final diagnosis was confirmed through histopathological examination following laparoscopic transperitoneal surgical removal. The examination revealed a left lateral vesical pelvic tumor with a firm-elastic, bicornuate appearance, along with a thickened endometrium. Microscopic findings included simple glandular hyperplasia with edema in the endometrium, a small adenomatous polyp at the uterine fundus, and bilateral rigid cords consistent with vas deferens histology. The primary issue with PMDS is in its rarity, which consequently limits the availability of comprehensive case series and prospective research. As a result, radiologists and surgeons must possess knowledge of this ailment, as there is a scarcity of defined treatment guidelines and long-term care strategies., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Ethics Committee of Clinical Hospital "Prof. Dr. Theodor Burghele" issued approval 2/2021. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Bolocan et al.)

The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS) have been reported. Here we report the case of a 2-year-old child who was diagnosed with WT1 missense variant, associated with DDS and initial presentation of aHUS. Complement factor H autoantibodies were negative. Complement regulatory system-related gene variants were not found, but a de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene was detected, resulting in a p. Asp252Asn substitution, by next-generation sequencing. The patient was a female morphologically but proved to be a genetic male because of karyotype 46, XY with normally developed female external genitalia. Bilateral nephrectomy and renal transplantation were performed 1 year later, and there was no recurrence of aHUS at 10 months after transplantation.

Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus. [ABSTRACT FROM AUTHOR]

The enthusiasms on 'intersex' have been with humanity since antique. Inadequacies in the management of the condition backwash in Psychosocial and medical morbidities with occasional mortality. The upsurge in the knowledge of its pathophysiology over generations has incredibly improved the management outcome. This study aims to present the fundamentals of the Pathophysiology and Management of DSD. The information provided is intended to guide in the basic evaluation and care of individuals with the disorder. Material and Method: Search from PubMed, EMBASE and AJOL for Literature on Disorders of Sexual development was reviewed. The search words were: intersex, the disorder of sexual differentiation (DSD), Pseudohermaphroditism, Hermaphroditism and Ambiguous genitalia. The literature on the Pathophysiology and the managementwas appraised and summarized. Conclusion: Genetic inquest and advances in molecular biology had provided cognizance on the pathophysiology of DSD. Patient's advocacy groups and de novo medical ethics necessitated the transformations in the approach to the management

Introduction: Persistent Mullerian duct syndrome is a rare disorder of male organ development characterized by internal male pseudohermaphroditism. Persistent Mullerian duct syndrome is usually an incidental finding in patients presenting cryptorchidism, inguinal hernia, or a previous story of undescended testes. Case description: We report on two cases of persistent Mullerian duct syndrome: an adult fertile male with uterus and ectopic prostate occurring as pelvic mass and a 75-year-old organ donor with uterus and two fallopian tubes, discovered in course of organ recruitment. We performed routine histological analysis and immunohistochemical profiling of the different tissue components. Examined tissues were all benign, and the living patient is well after surgery. Conclusion: In order to prevent further complications such as infertility and potential malignant change, surgeons and surgical pathologists must be aware of this condition and should consider excision of the Mullerian remnant where possible. [ABSTRACT FROM AUTHOR]

Introduction and Objectives. Persistent Müllerian duct syndrome is a relatively rare form of male pseudohermaphroditism in which Müllerian duct derivatives (uterus, fallopian tubes and upper vagina) are seen in an otherwise differentiated male patient with a normal 46XY karyotype. Materials and Methods. We report the case of one patient that was evaluated in our clinic using physical examination, imaging, measurement of tumor markers and surgical exploration. Results. The patient had an atrophic right testicle and a hypoplasic left testicle and presented primary infertility. Taking into account the existent risk of malignancy of the müllerian derivatives, laparoscopic hysterectomy was performed. Conclusion. Controversy remains as to the ideal surgical treatment regarding the müllerian structures, but orchidopexy should be performed in all cases. Laparoscopic exploration associated with excision on the derivatives is safe and should be taken into account. [ABSTRACT FROM AUTHOR]

This research deals with the subject of Hermaphrodite and its provisions in the personal status, where in the first requirement of the concept of the Hermaphrodite between Islamic jurisprudence and Doctors, and found that there was a large consensus between the concept of the Hermaphrodite in the doctrine and its significance in medicine scientists, where they agreed that the collection between the reproductive tract of humankind. In the second requirement displays the search of the types of Hermaphrodite and the existence of an agreement between the Islamic Jurisprudence and the medicine scientists as a hermaphrodite two types: True hermaphroditism and Pseudo-hermaphroditism. A third requirement was to determine the gender of the Hermaphrodite where Islamic Jurisprudence adopted the external signs in determining sex, while the doctors relied on the clinical and laboratory testing, the external signs may be incompatible with the phenomenon as a result of the tests, so the reliance on virtual signs of Islamic Jurisprudence is not enough. The search then discussed issues related of personal status, where marriage is not allowed to Hermaphrodite until it becomes clear, also prevents the Khalwa. Hermaphrodite Legacy inherits the inheritance of the female and stops the rest of the heirs. [ABSTRACT FROM AUTHOR]

The term congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. The clinical presentation varies according to chromosomal sex. The sex of neonate with CAH is often initially unclear because of genital ambiguity. We report a case of 25- year-old phenotypically male, presenting with generalized hyperpigmentation for 5 years and occasional syncope for 1 year. On examination there were sparse axillary and pubic hair with ambiguous genitalia. 46XX karyotype, hypoplastic uterus on CT scan and elevated ACTH and 17- hydroxyprogesterone levels lead to the diagnosis of female pseudohermaphroditism due to congenital adrenal hyperplasia and patient was started on glucocorticoids and fludrocortisone by endocrinologist and was also referred to plastic surgeon. [ABSTRACT FROM AUTHOR]

Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudohermaphroditism. It is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in otherwise normally virilized males (Karyotype 46XY). The exact cause of PMDS is not known, however it is thought to result from the defect of the synthesis or release of Mullerian inhibiting factor (MIF) or from a MIF receptor defect. Herein we report a case of PMDS with gynaecomastia and hypospadias in a post orchidopexy patient.

Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is referred to as Persistent Mullerian Duct Syndrome (PMDS). A young male patient with bilateral cryptorchidism presented to our hospital who was subsequently imaged. There are many case reports of persistent mullerian duct syndrome but they focus mainly on surgical aspects. In this article, MRI features of persistent müllerian duct syndrome are presented.

The disorders of sex development (DSD) are uncommon and have wide phenotypic variation. Due to this, they often cannot be classified properly and go unreported. This case is an 18-month-old child with penoscrotal hypospadias with bilateral undescended testes. The karyotyping was 46 XY. Serum testosterone and progesterone were normal. Histopathological examination showed the right gonad with few testicular tubules containing sertoli cells and fibro-collagenization of the stroma. The left Mullerian structures showed epididymis with fallopian tube, with absent testis. Persistent Mullerian duct with hypospadias is a rare anomaly, not classifiable under any of the 46 XY DSD. The possible genesis of this unique case is due to markedly reduced sertoli cells producing low levels of anti-Mullerian hormone which led to the failure of regression of Mullerian duct structures. The associated hypospadias is probably because of impaired action of testosterone possibly due to the deficiency of 5β reductase enzyme.

This is the first report of congenital adrenal hyperplasia (CAH) due to combined 17α-hydroxylase/17,20 lyase deficiency in an Omani patient who was initially treated for many years as a case of hypertension. CAH is an uncommon disorder that results from a defect in steroid hormones biosynthesis in the adrenal cortex. The clinical presentation depends on the site of enzymatic mutations and the types of accumulated steroid precursors. A 22-year-old woman who was diagnosed to have hypertension since the age of 10 years who was treated with anti-hypertensive therapy was referred to the National Diabetes and Endocrine Centre, Royal Hospital, Oman. The patient also had primary amenorrhea and features of sexual infantilism. Full laboratory and radio-imaging investigations were done. Adrenal steroids, pituitary function and karyotyping study were performed and the diagnosis was confirmed by molecular mutation study. Laboratory investigations revealed adrenal steroids and pituitary hormones profile in addition to 46XY karyotype that are consistent with the diagnosis of CAH due to 17α-hydroxylase deficiency. Extensive laboratory workup revealed low levels of serum cortisol (and its precursors 17α-hydroxyprogesterone and 11-deoxycortisol), adrenal androgens (dehydroepiandrosterone sulfate and androstenedione), and estrogen (estradiol); and high levels of mineralocorticoids precursors (11-deoxycorticosterone and corticosterone) with high levels of ACTH, FSH and LH. Mutation analysis revealed CYP17A1-homozygous mutation (c.287G>A p.Arg96Gln) resulting in the complete absence of 17α-hydroxylase/17,20-lyase activity. The patient was treated with dexamethasone and ethinyl estradiol with cessation of anti-hypertensive therapy. A review of the literature was conducted to identify previous studies related to this subtype of CAH. This is the first biochemically and genetically proven case of CAH due to 17α-hydroxylase/17,20-lyase deficiency in Oman and in the Arab World described in the literature.

This article analyzes German-language medical publications from the late 1950s and early 1960s which classify of inter sexuality by means of the patient's chromosomal sex, a recently introduced diagnostic category. On the one hand, the time limitations of the terms and their changing definitions become clear. At the same time, one understands that the chromosomal sex was a diagnostic factor intended only for the internal medi- cal discourse. The patients were not informed. [ABSTRACT FROM AUTHOR]

The persistent mullerian duct syndrome (PMDS) is a relatively rare form of internal male pseudohermaphroditism. In this type of male pseudohermaphroditism, there is no disturbance of either primary or secondary external masculinization. Consequently, this anomaly is mostly diagnosed incidentally, generally at operation for cryptorchidism or inguinal hernia. Here, we report a case of 30-year-old patient, an otherwise normal male, presenting with mullerian duct derivatives such as uterus, ovary, fallopian tube, and proximal vagina in the sac of left-sided irreducible inguinal hernia with right-sided undescended testes. [ABSTRACT FROM AUTHOR]